AutismKB 2.0

Annotation Detail for SLC5A12


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Basic Information Top
Gene Symbol:SLC5A12 ( DKFZp564G223,MGC52019,SMCT2 )
Gene Full Name: solute carrier family 5 (sodium/glucose cotransporter), member 12
Band: 11p14.2
Quick LinksEntrez ID:159963; OMIM: 612455; Uniprot ID:SC5AC_HUMAN; ENSEMBL ID: ENSG00000148942; HGNC ID: 28750
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body2 / 7076128
blastocyst2 / 6231932
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult10 / 19391215
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal48 / 336030714
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney32 / 211777151
larynx0 / 241450 
liver2 / 2077439
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214389_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.85
Adipocyte10.85
AdrenalCortex21
Adrenalgland10.65
Amygdala9.15
Appendix22.55
AtrioventricularNode25.45
BDCA4+_DentriticCells8.6
Bonemarrow15.5
BronchialEpithelialCells9.6
CD105+_Endothelial11.85
CD14+_Monocytes13.3
CD19+_BCells(neg._sel.)11.45
CD33+_Myeloid13.25
CD34+11.75
CD4+_Tcells8.8
CD56+_NKCells11.5
CD71+_EarlyErythroid11.65
CD8+_Tcells7.9
CardiacMyocytes34.55
Caudatenucleus9.9
Cerebellum9.15
CerebellumPeduncles17
CiliaryGanglion22.1
CingulateCortex13.35
Colorectaladenocarcinoma10.35
DorsalRootGanglion14.1
FetalThyroid23.7
Fetalbrain10.7
Fetalliver9.9
Fetallung7.65
GlobusPallidus11.65
Heart25
Hypothalamus11.55
Kidney12.25
Leukemia_chronicMyelogenousK-5629.4
Leukemia_promyelocytic-HL-609.3
Leukemialymphoblastic(MOLT-4)7.95
Liver22.85
Lung11.65
Lymphnode8.6
Lymphoma_burkitts(Daudi)15.5
Lymphoma_burkitts(Raji)17.9
MedullaOblongata9.4
OccipitalLobe9.95
OlfactoryBulb8.5
Ovary12.65
Pancreas10.55
PancreaticIslet12.05
ParietalLobe14.7
Pituitary12.55
Placenta10.45
Pons13.15
PrefrontalCortex12.5
Prostate11.45
Salivarygland10.7
SkeletalMuscle24.95
Skin17.4
SmoothMuscle15.8
Spinalcord11.55
SubthalamicNucleus14
SuperiorCervicalGanglion26.5
TemporalLobe11.1
Testis9.3
TestisGermCell8.9
TestisIntersitial10.5
TestisLeydigCell12.35
TestisSeminiferousTubule9.35
Thalamus12.05
Thymus7.4
Thyroid11.65
Tongue17.9
Tonsil11.25
Trachea9.1
TrigeminalGanglion26.05
Uterus7.8
UterusCorpus15.5
WholeBlood12
Wholebrain8.5
colon10.85
pineal_day11.94
pineal_night11.78
retina13.775
small_intestine10
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P12928
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala2.11 ± 1.03
Basal Forebrain1.65 ± 0.21
Basal Part of Pons1.36 ± 0.39
Cerebellar Cortex1.49 ± 0.71
Cerebellar Nuclei1.97 ± 0.7
Claustrum2.57 ± 0.89
Epithalamus1.33 ± 0.7
Frontal Lobe1.56 ± 0.75
Globus Pallidus2.26 ± 0.29
Hypothalamus1.71 ± 0.64
Insula1.58 ± 0.39
Limbic Lobe1.64 ± 0.58
Mesencephalon1.82 ± 0.69
Myelencephalon1.69 ± 0.65
Occipital Lobe1.65 ± 0.54
Parietal Lobe1.62 ± 0.64
Pontine Tegmentum1.71 ± 0.65
Striatum1.87 ± 0.49
Subthalamus1.83 ± 0.62
Temporal Lobe1.55 ± 0.61
Thalamus1.62 ± 0.58
White Matter2.12 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc5a12CBCerebellum0
0
Slc5a12CTXCerebral cortex0
0
Slc5a12HIPHippocampal region0
0
Slc5a12HPFHippocampal formation0
0
Slc5a12HYHypothalamus0
0
Slc5a12LSXLateral septal complex0
0
Slc5a12MBMidbrain0
0
Slc5a12MYMedulla0
0
Slc5a12OLFOlfactory bulb0
0
Slc5a12PPons0
0
Slc5a12PALPallidum0
0
Slc5a12RHPRetrohippocampal region0
0
Slc5a12sAMYStriatum-like amygdalar nuclei0
0
Slc5a12STRStriatum0
0
Slc5a12STRdStriatum dorsal region0
0
Slc5a12STRvStriatum ventral region0
0
Slc5a12THThalamus0
0
Peptide Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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